title: Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China.
abstract: In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10,297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as α-thalassemia (α-thal) carriers including three cases of the -α(3.7) (rightward) deletion, one case of the - -(SEA) deletion and one case of β-thal [IVS-II-654 (C>T), (HBB: c.316-197C>T)]. The incidence of Hb variants, thalassemia and HPFH/δβ-thal were 0.136% (14/10,297), 0.25% (5/2021) and 0.0001% (1/10,297), respectively. Eight genotypes of Hb variants were found, including Hb E [β26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A], Hb J-Bangkok [β56(D7)Gly→Asp (GGC>GAC); HBB; c.170G>A], Hb G-Coushatta [β22(4)Glu→Ala (GAA>GCA); HBB: c.68A>C], Hb Queens [α34(B15)Leu→Arg (CTG>CGG) (α2 or α1); HBA2: c.104T>G (or HBA1)], Hb I [α16(A14)Lys→Glu, AAG>GAG (α1); HBA1: c.49A>G], Hb Beijing [α16(A14)Lys→Asn (AAG>AAC or AAT) (α2 or α1); HBA2: c.51G>C (or HBA1) or 51G>T (or HBA1)], Hb Ube-2 [α68(E17)Asn→Asp (AAC>GAC) (α2 or α1); HBA2: c.205A>G (or HBA1)] and Hb G-Taipei [β22(B4)Glu→Gly (GAA>GGA); HBB: c.68A>G]. A Sicilian δβ(0)-thal, identified for the first time in Asia, was also found in this survey.
authors.affiliation: Laboratory Medical Center, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.forename: Zhi-Jun
authors.initials: ZJ
authors.lastname: Han
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.forename: Yue
authors.initials: Y
authors.lastname: Huang
authors.forename: Fen
authors.initials: F
authors.lastname: Lin
authors.forename: Xiao-Fen
authors.initials: XF
authors.lastname: Zhan
authors.forename: Chun-Ping
authors.initials: CP
authors.lastname: Lin
authors.forename: Jiao-Ren
authors.initials: JR
authors.lastname: Wu
authors.forename: Zhao-Yun
authors.initials: ZY
authors.lastname: Luo
authors.forename: Jing-Bo
authors.initials: JB
authors.lastname: Liu
authors.forename: Zhi-He
authors.initials: ZH
authors.lastname: Yan
authors.forename: Shu-Yan
authors.initials: SY
authors.lastname: Zheng
authors.forename: Jia-Kun
authors.initials: JK
authors.lastname: Zheng
authors.forename: Min
authors.initials: M
authors.lastname: Lu
authors.forename: Juan-Juan
authors.initials: JJ
authors.lastname: Zhu
authors.forename: Long-Xu
authors.initials: LX
authors.lastname: Xie
authors.forename: Li-Ye
authors.initials: LY
authors.lastname: Yang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001772:Blood Cell Count; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D005843:Geography; D006306:Health Surveys / Q000379:methods*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D017720:Molecular Epidemiology / Q000379:methods*; D009154:Mutation; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal